Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01994:Rps13'

183635

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rps13

Ensembl Gene

ENSMUSG00000090862

Gene Name

ribosomal protein S13

Synonyms

2700063M04Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL01994

Quality Score

Status

Chromosome

Chromosomal Location

115930742-115933425 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 115932925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170430] [ENSMUST00000170953] [ENSMUST00000205490] [ENSMUST00000205906]

AlphaFold

P62301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082807

Predicted Effect

probably benign
Transcript: ENSMUST00000170430

SMART Domains

Protein: ENSMUSP00000126092
Gene: ENSMUSG00000030660

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
low complexity region	361	372	N/A	INTRINSIC
PI3K_rbd	410	513	3.08e-38	SMART
PI3K_C2	674	783	2.71e-34	SMART
PI3Ka	860	1047	3.62e-85	SMART
PI3Kc	1134	1396	3.1e-125	SMART
PX	1422	1534	5.68e-30	SMART
C2	1573	1677	3.93e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170953

SMART Domains

Protein: ENSMUSP00000126294
Gene: ENSMUSG00000090862

Domain	Start	End	E-Value	Type
Ribosomal_S13_N	1	60	1.18e-36	SMART
Ribosomal_S15	70	149	8.24e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205265

Predicted Effect

probably benign
Transcript: ENSMUST00000205490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205548

Predicted Effect

unknown
Transcript: ENSMUST00000205906
AA Change: C53R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206712

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S15P family of ribosomal proteins. It is located in the cytoplasm. The protein has been shown to bind to the 5.8S rRNA in rat. The gene product of the E. coli ortholog (ribosomal protein S15) functions at early steps in ribosome assembly. This gene is co-transcribed with two U14 small nucleolar RNA genes, which are located in its third and fifth introns. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	A	T	13: 12,305,563 (GRCm39)	Y418N	probably benign	Het
Adam15	T	C	3: 89,248,812 (GRCm39)		probably benign	Het
Adam32	C	A	8: 25,392,812 (GRCm39)		probably benign	Het
Adamts12	T	A	15: 11,345,680 (GRCm39)	C1574S	probably damaging	Het
Adck1	T	C	12: 88,397,926 (GRCm39)	S187P	possibly damaging	Het
Atp13a3	A	G	16: 30,156,336 (GRCm39)	V949A	possibly damaging	Het
Atxn3	T	C	12: 101,908,439 (GRCm39)	T138A	probably benign	Het
Atxn7l2	C	T	3: 108,110,859 (GRCm39)	R559Q	probably damaging	Het
Bicra	G	T	7: 15,706,741 (GRCm39)	S1233R	possibly damaging	Het
Cacybp	G	T	1: 160,034,206 (GRCm39)	N101K	probably damaging	Het
Cops7b	T	C	1: 86,528,828 (GRCm39)	L185P	probably damaging	Het
Cttnbp2	T	C	6: 18,420,814 (GRCm39)	D899G	possibly damaging	Het
Cyp4f37	C	T	17: 32,844,150 (GRCm39)	R85*	probably null	Het
Dnah3	T	G	7: 119,550,437 (GRCm39)	N3294T	possibly damaging	Het
Elmo1	T	A	13: 20,526,634 (GRCm39)	Y395N	probably damaging	Het
Fam234b	T	A	6: 135,202,203 (GRCm39)	Y308*	probably null	Het
Fam43a	A	G	16: 30,419,481 (GRCm39)	K22E	probably damaging	Het
Fcer2a	T	C	8: 3,738,302 (GRCm39)	N123D	possibly damaging	Het
Gm11595	A	G	11: 99,663,027 (GRCm39)	C218R	unknown	Het
Gria4	T	C	9: 4,537,726 (GRCm39)	Y194C	probably damaging	Het
Grin2d	T	C	7: 45,507,396 (GRCm39)	E435G	probably damaging	Het
Hectd1	T	C	12: 51,844,725 (GRCm39)	E506G	probably damaging	Het
Htt	G	A	5: 34,989,948 (GRCm39)	S1160N	possibly damaging	Het
Ift140	A	G	17: 25,267,417 (GRCm39)	E605G	probably damaging	Het
Il17re	T	C	6: 113,445,411 (GRCm39)	V374A	probably benign	Het
Ippk	A	G	13: 49,612,093 (GRCm39)	Q439R	possibly damaging	Het
Itgam	G	A	7: 127,700,899 (GRCm39)	V530M	probably damaging	Het
Kirrel3	A	G	9: 34,931,429 (GRCm39)	H47R	possibly damaging	Het
Klk1b24	A	T	7: 43,841,057 (GRCm39)	I162F	probably damaging	Het
Lama1	A	T	17: 68,059,434 (GRCm39)	T606S	probably benign	Het
Lama2	C	T	10: 27,343,199 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,313,945 (GRCm39)	I2262T	probably benign	Het
Mamdc4	A	T	2: 25,458,546 (GRCm39)	I317N	possibly damaging	Het
Mtmr3	G	T	11: 4,437,938 (GRCm39)	H839N	probably benign	Het
Ncr1	G	T	7: 4,344,253 (GRCm39)	V177F	probably benign	Het
Nop58	T	C	1: 59,743,242 (GRCm39)	S219P	probably damaging	Het
Nrg3	T	C	14: 38,734,043 (GRCm39)	Y281C	probably damaging	Het
Nsf	A	G	11: 103,819,608 (GRCm39)	S54P	probably damaging	Het
Or56b6	A	T	7: 104,925,153 (GRCm39)		noncoding transcript	Het
Or6k8-ps1	T	A	1: 173,979,102 (GRCm39)	S7T	probably benign	Het
Plxnc1	T	C	10: 94,685,801 (GRCm39)	K730R	probably damaging	Het
Polr2g	A	T	19: 8,771,740 (GRCm39)		probably benign	Het
Scgb2b7	A	G	7: 31,403,409 (GRCm39)	I99T	probably benign	Het
Slc22a27	G	T	19: 7,887,108 (GRCm39)	H260Q	possibly damaging	Het
Spata18	G	T	5: 73,814,944 (GRCm39)		probably null	Het
Tns2	A	G	15: 102,019,814 (GRCm39)	E560G	possibly damaging	Het
Trbv16	T	C	6: 41,128,715 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,851,520 (GRCm39)	I1829N	probably damaging	Het
Vcl	C	T	14: 21,053,311 (GRCm39)	T442I	probably damaging	Het
Vmn2r102	T	A	17: 19,880,731 (GRCm39)	I24N	probably benign	Het
Vmn2r114	T	C	17: 23,529,451 (GRCm39)	D217G	probably damaging	Het
Vmn2r58	A	G	7: 41,486,394 (GRCm39)	Y834H	probably damaging	Het
Zdhhc8	G	T	16: 18,045,636 (GRCm39)		probably benign	Het

Other mutations in Rps13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3777:Rps13	UTSW	7	115,933,160 (GRCm39)	missense	probably damaging	1.00
R5286:Rps13	UTSW	7	115,933,155 (GRCm39)	missense	probably damaging	1.00
R6001:Rps13	UTSW	7	115,930,808 (GRCm39)	missense	probably benign	0.01
Z1177:Rps13	UTSW	7	115,933,320 (GRCm39)	missense	probably null	1.00

Posted On

2014-05-07